Canonical Allele Identifier: PA2830150258
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 162551
ClinVar RCV Id: RCV000369192 RCV000725025 RCV000817834
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Arg2084Cys
CA295314
NM_057167.4:c.6250C>T